Navigating the Complex Landscape of CYP21A2 Variants

Excerpt

Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency, is a common autosomal recessive disorder. It occurs in three clinical forms - classical salt wasting (SW), simple virilizing (SV), and a milder non-classical (NC) form. Globally, classic CAH affects 1 in 15,000 to 1 in 16,000 live births [1]. Recently published data on incidence in newborns in India shows an overall rate of 1 in 5762, with 1 in 2036 in Chennai, 1 in 7608 in Delhi, and 1 in 9983 in Mumbai [2]. Another study in 220,000 newborns [3] reported an incidence of 1:4074, although this is likely to be an overestimate, as it is based on samples tested in a commercial laboratory. Nevertheless, these data indicate a high burden of the disorder in India. …